Research Topic

Recent Advances in Pediatric Cancer Predisposition Syndromes

About this Research Topic

Up to 10% of cancers occur through the inherited mutation of a group of genes called cancer predisposition genes. Individuals who carry a mutant allele of these genes have an increased susceptibility to cancer. A growing number of cancer susceptibility genes are being identified, and the physiopathology of germline mutation-based cancer development is also being elucidated with accumulating clinical and molecular data. More importantly, the identification of familial mutations has become routine practice, which is a perfect example of bench-to-bed translational medicine.

Incorporation of these variants into clinical management algorithms will help refine patient management, and that this will be further improved by the inclusion of other germline variants, such as those that determine the likelihood of benefit or toxicity from anti-neoplastic therapy. Such integrated patient and tumor profiling will be essential if we are to deliver truly precision medicine for cancer patients, but in a similar way to rare germline mutations, we must ensure that we identify and utilize rare somatic mutations with strong predictive and prognostic effects. 

Recently, other clinical applications of predisposition genes have been exploited, especially as efficient biomarkers predicting prognosis or response to treatment. This Research Topic will cover all the aspects of pediatrics cancer predisposition syndromes. We welcome the submission of original research articles focusing on:
(i) Strategies to identify germline predisposing variants in familial and sporadic cases, including identification of non-coding and structural variants;
(ii) Approaches to assign significance to variants using in silico and experimental methods;
(iii) Clinical management of variant identification;
(iv) Advancing new concepts in genetic approach for cancer;
(v) Novel diagnostic approaches;
(vi) New potential targeted therapies;
(vii) Clinical trials.

We also welcome the submission of review articles on the use of narrative medicine in pediatric cancer predisposition syndrome within this Research Topic. Translational papers covering different tumors and/or therapeutic strategies will be preferred.

We would like to acknowledge Dr. Giada Del Baldo and Dr. Mariachiara Lodi from IRCCS Bambino Gesù Children’s Hospital have acted as coordinator and have contributed to the preparation of the proposal for this Research Topic.


Keywords: Children, hereditary cancers, cancer predisposition genes, cancer susceptibility, Haematology-Oncology


Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

Up to 10% of cancers occur through the inherited mutation of a group of genes called cancer predisposition genes. Individuals who carry a mutant allele of these genes have an increased susceptibility to cancer. A growing number of cancer susceptibility genes are being identified, and the physiopathology of germline mutation-based cancer development is also being elucidated with accumulating clinical and molecular data. More importantly, the identification of familial mutations has become routine practice, which is a perfect example of bench-to-bed translational medicine.

Incorporation of these variants into clinical management algorithms will help refine patient management, and that this will be further improved by the inclusion of other germline variants, such as those that determine the likelihood of benefit or toxicity from anti-neoplastic therapy. Such integrated patient and tumor profiling will be essential if we are to deliver truly precision medicine for cancer patients, but in a similar way to rare germline mutations, we must ensure that we identify and utilize rare somatic mutations with strong predictive and prognostic effects. 

Recently, other clinical applications of predisposition genes have been exploited, especially as efficient biomarkers predicting prognosis or response to treatment. This Research Topic will cover all the aspects of pediatrics cancer predisposition syndromes. We welcome the submission of original research articles focusing on:
(i) Strategies to identify germline predisposing variants in familial and sporadic cases, including identification of non-coding and structural variants;
(ii) Approaches to assign significance to variants using in silico and experimental methods;
(iii) Clinical management of variant identification;
(iv) Advancing new concepts in genetic approach for cancer;
(v) Novel diagnostic approaches;
(vi) New potential targeted therapies;
(vii) Clinical trials.

We also welcome the submission of review articles on the use of narrative medicine in pediatric cancer predisposition syndrome within this Research Topic. Translational papers covering different tumors and/or therapeutic strategies will be preferred.

We would like to acknowledge Dr. Giada Del Baldo and Dr. Mariachiara Lodi from IRCCS Bambino Gesù Children’s Hospital have acted as coordinator and have contributed to the preparation of the proposal for this Research Topic.


Keywords: Children, hereditary cancers, cancer predisposition genes, cancer susceptibility, Haematology-Oncology


Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

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Submission Deadlines

21 April 2020 Manuscript

Participating Journals

Manuscripts can be submitted to this Research Topic via the following journals:

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Topic Editors

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Submission Deadlines

21 April 2020 Manuscript

Participating Journals

Manuscripts can be submitted to this Research Topic via the following journals:

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